Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants

INTRODUCTION: Pathogenic variants in the pyruvate carboxylase (PC) gene cause a wide spectrum of recessive phenotypes, ranging from the early-onset fatal encephalopathy to the adult-onset benign form. RESULTS: Patient 1 is a 6 y.o. boy with ataxia, hypoglycemia and episodes of lactic acidosis. WGS r...

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Detalles Bibliográficos
Autores principales: Tsygankova, Polina, Bychkov, Igor, Minzhenkova, Marina, Pechatnikova, Natalia, Bessonova, Lyudmila, Buyanova, Galina, Naumchik, Irina, Beskorovainiy, Nikita, Tabakov, Vyacheslav, Itkis, Yulia, Shilova, Nadezhda, Zakharova, Ekaterina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9240867/
https://www.ncbi.nlm.nih.gov/pubmed/35782291
http://dx.doi.org/10.1016/j.ymgmr.2022.100889

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9240867/
https://www.ncbi.nlm.nih.gov/pubmed/35782291
http://dx.doi.org/10.1016/j.ymgmr.2022.100889

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